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Mutations in antiquitin in individuals with pyridoxine-dependent seizures
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a…
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness, and highlight gaps in knowledge that must be filled by future research.
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
- M. Huemer, D. Diodato, C. Dionisi-Vici
- MedicineJournal of Inherited Metabolic Disease
- 30 November 2016
Clinical and biochemical characteristics of these severe disorders of remethylation defects are summarized to provide guidelines on diagnosis and management and to improve survival and incidence of severe complications.
Clinical presentation and outcome in a series of 88 patients with the cblC defect
- S. Fischer, M. Huemer, C. Dionisi-Vici
- Medicine, PsychologyJournal of Inherited Metabolic Disease
- 6 March 2014
The survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria to determine the long-term neurological and ophthalmological outcome of cblC patients.
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
- S. Grünert, S. Müllerleile, J. Sass
- Medicine, PsychologyOrphanet Journal of Rare Diseases
- 10 January 2013
The data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management, and that Impairment of neurocognitive development is of special concern.
Gene identification for the cblD defect of vitamin B12 metabolism.
- David Coelho, T. Suormala, B. Fowler
- Medicine, BiologyThe New England journal of medicine
- 3 April 2008
Mutations in a gene designated MMADHC are responsible for the cblD defect in vitamin B12 metabolism, andTransfection of wild-type MMAD HC rescued the cellular phenotype, and the functional importance of mutant alleles was shown by means of transfection with mutant constructs.
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
This work identifies LMBRD1 as the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamina.
Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
- M. Baumgartner, D. Rabier, J. Saudubray
- Biology, MedicineEuropean Journal of Pediatrics
- 1 January 2005
The clinical phenotype of the sibs is described in detail and a relative deficiency of urea cycle intermediates during fasting periods results in a paradoxical hyperammonaemia, and the results of ornithine loading tests and indirect enzyme studies corroborating the biological significance of the defect in P5CS in vivo are shown.